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Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study

Lian Duan1, Ling Wei1, Yanghua Tian1

  • 1From the Department of Neurosurgery, 307 Hospital, PLA Center for Cerebral Vascular Disease, Clinical Colleague of Anhui Medical University, Beijing, China (L.D., Z.Z., S.L., D.L., W.Y., R.Z., P.X., C.H., X.B., F.Z., J.F.); Department of Neurology (L.W., Y.T., P.H., Q.W., J.Z., W.Y., Y.M., J.W., X.C., Y.W., K.W.) and Department of Dermatology (F.Z., X. Zhang, X. Zuo), First Affiliated Hospital of Anhui Medical University, Hefei, China; Department of Neurosurgery, Second Affiliated Hospital of Anhui Medical University, Hefei, China (Y.W., B.Z., J.W.); Beijing Institute of Microbiology and Epidemiology, State Key Laboratory of Pathogen and Biosecurity, China (W.L., W.C., J.L.); Department of Neurosurgery, Nanyang City Center Hospital, Henan, China (G.Z.); Department of Medical Psychology (C.Z., F.Y.) and Department of Physiology, School of Basic Medicine (B.S.), Anhui Medical University, Hefei, China); State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China (F.Z., X. Zhang, X. Zuo); Department of Neurology, Xijing Hospital, Fourth Military Medical University, China (G.Z.); Department of Medicine (A.X.), Department of Pharmacology and Pharmacy (A.X.), and State Key Laboratory of Pharmaceutical Biotechnology (A.X.), Hong Kong University, China; Department of Human Genetics, Genome Institute of Singapore, A*STAR (J.L.); and Anhui Collaborative Innovation Center of Neuropsychiatric Disorder and Mental Health, Hefei, China (K.W.).

Stroke
|December 24, 2017
PubMed
Abstract

Insights

This genome-wide study identified novel genetic risk factors for Moyamoya disease (MMD), a rare brain vessel disorder. Findings suggest potential therapeutic targets in homocysteine metabolism and immune pathways for MMD treatment.

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Moyamoya disease (MMD) is a rare cerebral vasculopathy causing stroke in young individuals.
  • The genetic underpinnings of MMD are not fully understood despite evidence of familial inheritance.

Purpose of the Study:

  • To identify novel genetic susceptibility loci for Moyamoya disease.
  • To explore the genetic basis of MMD and its association with clinical factors.

Main Methods:

  • A two-stage genome-wide association study (GWAS) involving 1492 MMD cases and 5084 controls.
  • Logistic regression, SNP imputation, and meta-analysis were employed for association testing.
  • Subgroup analyses were performed using patient clinical data.

Main Results:

  • Ten novel genome-wide significant risk loci for MMD were identified, along with a previously known locus.
  • The identified single nucleotide polymorphisms (SNPs) explained a significant portion of MMD risk variance.
  • Associations were found with genes involved in homocysteine metabolism (MTHFR, TCN2) and immune system pathways, including RNF213 and HDAC9.

Conclusions:

  • This study elucidates novel susceptibility genes contributing to Moyamoya disease.
  • The findings highlight the roles of homocysteine metabolism and immune system pathways in MMD pathogenesis.
  • Targeting these pathways may offer promising therapeutic strategies for MMD.
Keywords:
genome-wide association studyhomocysteinehumansmoyamoya diseaseodds ratio

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